Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia M. JuhosováJ. ChandogaJ. Štofko Original Article 19 November 2022 Pages: 1 - 16
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients Miral M. RefeatWalaa El NaggarAyman Kilany Original Article Open access 26 November 2022 Pages: 17 - 28
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior Clemens Falker-GieskeJörn BennewitzJens Tetens Original Article Open access 30 November 2022 Pages: 29 - 41
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India Saraswati NashiKiran PolavarapuAtchayaram Nalini Original Article 29 December 2022 Pages: 43 - 53
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia Misbahuddin M. RafeeqMuhammad UmairRaja Hussain Ali Short Communication 03 October 2022 Pages: 55 - 60
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia Tal GilboaNaama ElefantNuphar Hacohen Short Communication 29 November 2022 Pages: 61 - 66